Mutagenetix > Incidental Mutation

Incidental Mutation 'R5311:Lgi2'

404842

Institutional Source

Beutler Lab

Gene Symbol

Lgi2

Ensembl Gene

ENSMUSG00000039252

Gene Name

leucine-rich repeat LGI family, member 2

Synonyms

MMRRC Submission

042894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5311 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52690859-52723689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52711827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 164 (D164E)

Ref Sequence

ENSEMBL: ENSMUSP00000040436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039750] [ENSMUST00000199942]

AlphaFold

Q8K4Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000039750
AA Change: D164E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: D164E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:LRRNT	32	62	9e-15	BLAST
LRR_TYP	81	104	7.26e-3	SMART
LRR_TYP	105	128	4.72e-2	SMART
LRRCT	140	189	4.49e-4	SMART
Pfam:EPTP	224	265	3.9e-12	PFAM
Pfam:EPTP	270	311	2e-13	PFAM
Pfam:EPTP	316	362	2.1e-16	PFAM
Pfam:EPTP	365	407	2.3e-9	PFAM
Pfam:EPTP	412	454	4.8e-12	PFAM
Pfam:EPTP	457	498	2.7e-14	PFAM
low complexity region	499	509	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199942
AA Change: D188E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252
AA Change: D188E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:LRRNT	32	62	7e-15	BLAST
LRR_TYP	81	104	7.26e-3	SMART
LRR_TYP	105	128	4.72e-2	SMART
LRR_TYP	129	152	5.99e-4	SMART
LRRCT	164	213	4.49e-4	SMART
Pfam:EPTP	216	257	5.6e-12	PFAM
Pfam:EPTP	262	303	2.8e-13	PFAM
Pfam:EPTP	308	354	3e-16	PFAM
Pfam:EPTP	357	399	3.3e-9	PFAM
Pfam:EPTP	404	446	6.8e-12	PFAM
Pfam:EPTP	449	490	3.8e-14	PFAM
low complexity region	491	501	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5z1	A	G	5: 142,453,442 (GRCm39)	K137E	possibly damaging	Het
Atm	A	C	9: 53,429,923 (GRCm39)	V371G	probably benign	Het
Cacna2d3	A	G	14: 29,068,987 (GRCm39)	Y247H	probably damaging	Het
Ccdc180	T	C	4: 45,917,556 (GRCm39)	V927A	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Edar	G	A	10: 58,443,257 (GRCm39)	P290S	possibly damaging	Het
Ext2	T	C	2: 93,526,606 (GRCm39)	I677V	probably benign	Het
Fam53a	A	G	5: 33,765,080 (GRCm39)	S209P	probably damaging	Het
Fshr	A	T	17: 89,318,441 (GRCm39)		probably null	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gm14295	A	T	2: 176,502,465 (GRCm39)	I652L	probably benign	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Gm5431	T	A	11: 48,779,716 (GRCm39)	E402V	probably damaging	Het
Gm6899	GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC	GGAGGCCGCCCAGTGGCAGAGGC	11: 26,543,725 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,115,346 (GRCm39)	D342G	probably benign	Het
Lrriq1	A	G	10: 103,050,448 (GRCm39)	I768T	probably damaging	Het
Map1a	C	A	2: 121,132,868 (GRCm39)	A990E	probably damaging	Het
Mdh1b	A	G	1: 63,759,163 (GRCm39)	V143A	probably benign	Het
Mrgprb3	C	T	7: 48,293,059 (GRCm39)	C164Y	probably damaging	Het
Mtpap	T	A	18: 4,386,328 (GRCm39)	V316E	probably damaging	Het
Mybpc3	T	A	2: 90,959,023 (GRCm39)	C655*	probably null	Het
Myh15	A	G	16: 48,986,204 (GRCm39)	E1558G	possibly damaging	Het
Mylk	A	G	16: 34,742,127 (GRCm39)	T880A	probably benign	Het
Nckap1	T	A	2: 80,370,466 (GRCm39)	D408V	probably damaging	Het
Nos3	A	T	5: 24,582,343 (GRCm39)	H605L	probably benign	Het
Nrxn2	C	A	19: 6,581,428 (GRCm39)	D411E	probably benign	Het
Or1af1	T	C	2: 37,109,633 (GRCm39)	V44A	probably benign	Het
Or8j3b	T	A	2: 86,205,094 (GRCm39)	I221L	possibly damaging	Het
Pde4d	C	A	13: 109,769,398 (GRCm39)	P29T	probably benign	Het
Pde4d	C	T	13: 109,769,399 (GRCm39)	P29L	probably benign	Het
Pkhd1	A	G	1: 20,636,094 (GRCm39)	V412A	possibly damaging	Het
Rev1	T	A	1: 38,118,474 (GRCm39)	I480L	probably benign	Het
Rimbp3	A	G	16: 17,028,708 (GRCm39)	T711A	probably benign	Het
RP23-191E1.1	T	A	3: 106,204,784 (GRCm39)		noncoding transcript	Het
Serpina11	A	T	12: 103,952,221 (GRCm39)	I183N	probably damaging	Het
Siglec1	T	C	2: 130,921,236 (GRCm39)	H645R	probably damaging	Het
Skint7	G	A	4: 111,837,501 (GRCm39)	R93H	probably damaging	Het
Slfn8	T	C	11: 82,894,910 (GRCm39)	E632G	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Trps1	G	A	15: 50,528,156 (GRCm39)	T658I	probably damaging	Het
Ubash3a	A	G	17: 31,438,691 (GRCm39)	T287A	probably damaging	Het
Ugt2b35	G	A	5: 87,159,139 (GRCm39)	W444*	probably null	Het
Vmn1r219	T	A	13: 23,347,063 (GRCm39)	V84D	probably damaging	Het
Vmn2r10	T	C	5: 109,154,121 (GRCm39)	Y61C	probably damaging	Het
Vmn2r104	G	A	17: 20,250,163 (GRCm39)	P703S	probably damaging	Het
Wdsub1	T	A	2: 59,708,873 (GRCm39)		probably benign	Het
Zfp667	A	G	7: 6,308,715 (GRCm39)	Q461R	probably benign	Het
Zfp941	C	A	7: 140,391,872 (GRCm39)	G496*	probably null	Het

Other mutations in Lgi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Lgi2	APN	5	52,695,463 (GRCm39)	missense	probably benign
IGL01310:Lgi2	APN	5	52,711,807 (GRCm39)	missense	probably benign	0.44
IGL02086:Lgi2	APN	5	52,723,299 (GRCm39)	missense	probably damaging	0.96
IGL03091:Lgi2	APN	5	52,721,307 (GRCm39)	critical splice donor site	probably null
IGL03367:Lgi2	APN	5	52,719,502 (GRCm39)	missense	probably damaging	1.00
IGL03388:Lgi2	APN	5	52,695,819 (GRCm39)	missense	probably damaging	1.00
R0388:Lgi2	UTSW	5	52,711,891 (GRCm39)	missense	probably damaging	0.99
R0602:Lgi2	UTSW	5	52,711,765 (GRCm39)	missense	probably damaging	0.98
R0633:Lgi2	UTSW	5	52,711,802 (GRCm39)	missense	probably damaging	0.97
R1616:Lgi2	UTSW	5	52,703,980 (GRCm39)	missense	probably benign	0.00
R1916:Lgi2	UTSW	5	52,703,974 (GRCm39)	missense	probably benign
R2072:Lgi2	UTSW	5	52,695,847 (GRCm39)	missense	probably damaging	1.00
R2512:Lgi2	UTSW	5	52,695,307 (GRCm39)	makesense	probably null
R4614:Lgi2	UTSW	5	52,695,775 (GRCm39)	missense	probably damaging	0.99
R4855:Lgi2	UTSW	5	52,695,849 (GRCm39)	missense	probably damaging	1.00
R5092:Lgi2	UTSW	5	52,695,429 (GRCm39)	missense	probably damaging	1.00
R5181:Lgi2	UTSW	5	52,711,792 (GRCm39)	missense	probably damaging	1.00
R6074:Lgi2	UTSW	5	52,703,984 (GRCm39)	missense	probably benign
R7089:Lgi2	UTSW	5	52,695,832 (GRCm39)	missense	probably damaging	0.99
R7376:Lgi2	UTSW	5	52,695,604 (GRCm39)	missense	probably damaging	0.99
R7396:Lgi2	UTSW	5	52,695,753 (GRCm39)	missense	probably damaging	1.00
R7733:Lgi2	UTSW	5	52,695,873 (GRCm39)	missense	probably benign	0.03
R8007:Lgi2	UTSW	5	52,723,375 (GRCm39)	missense	probably benign	0.01
R8073:Lgi2	UTSW	5	52,704,013 (GRCm39)	missense	probably benign
R9137:Lgi2	UTSW	5	52,695,361 (GRCm39)	missense	probably damaging	1.00
R9484:Lgi2	UTSW	5	52,695,936 (GRCm39)	missense	probably benign	0.36
R9505:Lgi2	UTSW	5	52,711,775 (GRCm39)	missense	probably benign	0.00
R9723:Lgi2	UTSW	5	52,695,843 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCTCCGAACCCCATTGA -3'
(R):5'- GGGAGGCTCCTTTCTCTGTG -3'

Sequencing Primer
(F):5'- TTGGACTCAGGTCACCAAACTTGG -3'
(R):5'- AACTCCAGCTTGTGTCAAGTTG -3'

Posted On

2016-07-22